Pandas Profiling Report

Dataset statistics

Number of variables	46
Number of observations	65188
Missing cells	898429
Missing cells (%)	30.0%
Duplicate rows	0
Duplicate rows (%)	0.0%
Total size in memory	127.0 MiB
Average record size in memory	2.0 KiB

Variable types

CAT	33
NUM	10
BOOL	2
UNSUPPORTED	1

Reproduction

Analysis started	2020-04-30 09:59:39.439110
Analysis finished	2020-04-30 10:05:50.793552
Version	pandas-profiling v2.5.0
Command line	`pandas_profiling --config_file config.yaml [YOUR_FILE.csv]`
Download configuration	config.yaml

`REF` has a high cardinality: 866 distinct values	High cardinality
`ALT` has a high cardinality: 458 distinct values	High cardinality
`CLNDISDB` has a high cardinality: 9234 distinct values	High cardinality
`CLNDISDBINCL` has a high cardinality: 93 distinct values	High cardinality
`CLNDN` has a high cardinality: 9260 distinct values	High cardinality
`CLNDNINCL` has a high cardinality: 101 distinct values	High cardinality
`CLNHGVS` has a high cardinality: 65188 distinct values	High cardinality
`CLNSIGINCL` has a high cardinality: 137 distinct values	High cardinality
`CLNVI` has a high cardinality: 27654 distinct values	High cardinality
`MC` has a high cardinality: 90 distinct values	High cardinality
`Allele` has a high cardinality: 374 distinct values	High cardinality
`SYMBOL` has a high cardinality: 2328 distinct values	High cardinality
`Feature` has a high cardinality: 2369 distinct values	High cardinality
`EXON` has a high cardinality: 3264 distinct values	High cardinality
`INTRON` has a high cardinality: 1929 distinct values	High cardinality
`cDNA_position` has a high cardinality: 13970 distinct values	High cardinality
`CDS_position` has a high cardinality: 13663 distinct values	High cardinality
`Protein_position` has a high cardinality: 7339 distinct values	High cardinality
`Amino_acids` has a high cardinality: 1262 distinct values	High cardinality
`Codons` has a high cardinality: 2220 distinct values	High cardinality
`MOTIF_SCORE_CHANGE` is highly correlated with `POS` and 3 other fields	High Correlation
`POS` is highly correlated with `MOTIF_SCORE_CHANGE`	High Correlation
`STRAND` is highly correlated with `MOTIF_SCORE_CHANGE`	High Correlation
`CADD_PHRED` is highly correlated with `MOTIF_SCORE_CHANGE` and 1 other fields	High Correlation
`CADD_RAW` is highly correlated with `MOTIF_SCORE_CHANGE` and 1 other fields	High Correlation
`CLNDISDBINCL` has 65021 (99.7%) missing values	Missing
`CLNDNINCL` has 65021 (99.7%) missing values	Missing
`CLNSIGINCL` has 65021 (99.7%) missing values	Missing
`CLNVI` has 37529 (57.6%) missing values	Missing
`MC` has 846 (1.3%) missing values	Missing
`SSR` has 65058 (99.8%) missing values	Missing
`EXON` has 8893 (13.6%) missing values	Missing
`INTRON` has 56385 (86.5%) missing values	Missing
`cDNA_position` has 8884 (13.6%) missing values	Missing
`CDS_position` has 9955 (15.3%) missing values	Missing
`Protein_position` has 9955 (15.3%) missing values	Missing
`Amino_acids` has 10004 (15.3%) missing values	Missing
`Codons` has 10004 (15.3%) missing values	Missing
`DISTANCE` has 65080 (99.8%) missing values	Missing
`BAM_EDIT` has 33219 (51.0%) missing values	Missing
`SIFT` has 40352 (61.9%) missing values	Missing
`PolyPhen` has 40392 (62.0%) missing values	Missing
`MOTIF_NAME` has 65186 (> 99.9%) missing values	Missing
`MOTIF_POS` has 65186 (> 99.9%) missing values	Missing
`HIGH_INF_POS` has 65186 (> 99.9%) missing values	Missing
`MOTIF_SCORE_CHANGE` has 65186 (> 99.9%) missing values	Missing
`LoFtool` has 4213 (6.5%) missing values	Missing
`CADD_PHRED` has 1092 (1.7%) missing values	Missing
`CADD_RAW` has 1092 (1.7%) missing values	Missing
`BLOSUM62` has 39595 (60.7%) missing values	Missing
`ORIGIN` is highly skewed (γ1 = 68.58619745)	Skewed
`CHROM` is an unsupported type, check if it needs cleaning or further analysis	Rejected
`AF_ESP` has 35781 (54.9%) zeros	Zeros
`AF_EXAC` has 24047 (36.9%) zeros	Zeros
`AF_TGP` has 37972 (58.2%) zeros	Zeros

CHROM
Unsupported

REJECTED
UNSUPPORTED

Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

POS
Real number (ℝ_≥0)

HIGH CORRELATION

Distinct count	63115
Unique (%)	96.8%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	77575938.96
Minimum	961
Maximum	247607973
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	961
5-th percentile	4876674.45
Q1	32541793
median	57970213
Q3	112745411.2
95-th percentile	187122313.8
Maximum	247607973
Range	247607012
Interquartile range (IQR)	80203618.25

Descriptive statistics

Standard deviation	59740509.88
Coefficient of variation (CV)	0.7700907096
Kurtosis	-0.1906181669
Mean	77575938.96
Median Absolute Deviation (MAD)	50014175.48
Skewness	0.8029306643
Sum	5.057020309e+12
Variance	3.568928521e+15

Histogram
Dynamic Histogram

Histogram with fixed size bins (bins=10)

Histogram with variable size bins (bins=[9.61000000e+02 1.57170000e+04 2.18465000e+05 2.18490500e+05 2.23595500e+05 ... 2.47582272e+08 2.47582350e+08 2.47587376e+08 2.47588864e+08 2.47607973e+08], "bayesian blocks" binning strategy used)

Value	Count	Frequency (%)
89876827	11	< 0.1%
179578108	9	< 0.1%
73613031	8	< 0.1%
92944314	7	< 0.1%
103629803	7	< 0.1%
17697093	6	< 0.1%
51175655	6	< 0.1%
25031776	6	< 0.1%
11097199	5	< 0.1%
98270646	5	< 0.1%
Other values (63105)	65118	99.9%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
961	1	< 0.1%
1291	1	< 0.1%
1393	1	< 0.1%
1462	1	< 0.1%
3243	1	< 0.1%

Value	Count	Frequency (%)
247607973	1	< 0.1%
247607371	1	< 0.1%
247592912	1	< 0.1%
247588869	1	< 0.1%
247588858	1	< 0.1%

REF
Categorical

HIGH CARDINALITY

Distinct count	866
Unique (%)	1.3%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

C	21798
G	21361
A	9845
T	9421
CT	126
Other values (861)	2637

Value	Count	Frequency (%)
C	21798	33.4%
G	21361	32.8%
A	9845	15.1%
T	9421	14.5%
CT	126	0.2%
GC	113	0.2%
TG	105	0.2%
AG	104	0.2%
AC	103	0.2%
GA	91	0.1%
Other values (856)	2121	3.3%

Length

Max length	127
Mean length	1.174863472
Min length	1

Value	Count	Frequency (%)
Uppercase_Letter	4	100.0%

Value	Count	Frequency (%)
Latin	4	100.0%

Value	Count	Frequency (%)
ASCII	4	100.0%

ALT
Categorical

HIGH CARDINALITY

Distinct count	458
Unique (%)	0.7%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

T	20409
A	20205
G	11782
C	11429
TA	118
Other values (453)	1245

Value	Count	Frequency (%)
T	20409	31.3%
A	20205	31.0%
G	11782	18.1%
C	11429	17.5%
TA	118	0.2%
CT	93	0.1%
CA	77	0.1%
AT	75	0.1%
GA	67	0.1%
GT	64	0.1%
Other values (448)	869	1.3%

Length

Max length	100
Mean length	1.072359944
Min length	1

Value	Count	Frequency (%)
Uppercase_Letter	4	100.0%

Value	Count	Frequency (%)
Latin	4	100.0%

Value	Count	Frequency (%)
ASCII	4	100.0%

AF_ESP
Real number (ℝ_≥0)

ZEROS

Distinct count	2842
Unique (%)	4.4%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	0.01451052188
Minimum	0
Maximum	0.499
Zeros	35781
Zeros (%)	54.9%
Memory size	509.4 KiB

Quantile statistics

Minimum	0
5-th percentile	0
Q1	0
median	0
Q3	0.0012
95-th percentile	0.075765
Maximum	0.499
Range	0.499
Interquartile range (IQR)	0.0012

Descriptive statistics

Standard deviation	0.05779541015
Coefficient of variation (CV)	3.983000105
Kurtosis	32.06061665
Mean	0.01451052188
Median Absolute Deviation (MAD)	0.02422527929
Skewness	5.465588287
Sum	945.9119
Variance	0.003340309435

Histogram
Dynamic Histogram

Histogram with fixed size bins (bins=10)

Histogram with variable size bins (bins=[0.0000e+00 5.0000e-05 1.5000e-04 2.5000e-04 3.5000e-04 ... 1.0415e-01 1.7640e-01 2.0745e-01 3.2555e-01 4.9900e-01], "bayesian blocks" binning strategy used)

Value	Count	Frequency (%)
0	35781	54.9%
0.0001	3924	6.0%
0.0002	3199	4.9%
0.0003	1110	1.7%
0.0005	994	1.5%
0.0004	819	1.3%
0.0009	637	1.0%
0.0006	523	0.8%
0.0007	457	0.7%
0.0008	440	0.7%
Other values (2832)	17304	26.5%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	35781	54.9%
0.0001	3924	6.0%
0.0002	3199	4.9%
0.0003	1110	1.7%
0.0004	819	1.3%

Value	Count	Frequency (%)
0.499	1	< 0.1%
0.4989	1	< 0.1%
0.4986	1	< 0.1%
0.4985	1	< 0.1%
0.4979	1	< 0.1%

AF_EXAC
Real number (ℝ_≥0)

ZEROS

Distinct count	6667
Unique (%)	10.2%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	0.0144921754
Minimum	0
Maximum	0.49989
Zeros	24047
Zeros (%)	36.9%
Memory size	509.4 KiB

Quantile statistics

Minimum	0
5-th percentile	0
Q1	0
median	4e-05
Q3	0.00123
95-th percentile	0.0768395
Maximum	0.49989
Range	0.49989
Interquartile range (IQR)	0.00123

Descriptive statistics

Standard deviation	0.05954209632
Coefficient of variation (CV)	4.108568568
Kurtosis	31.33022126
Mean	0.0144921754
Median Absolute Deviation (MAD)	0.02460664223
Skewness	5.434358612
Sum	944.71593
Variance	0.003545261235

Histogram
Dynamic Histogram

Histogram with fixed size bins (bins=10)

Histogram with variable size bins (bins=[0.00000e+00 5.00000e-06 1.50000e-05 2.50000e-05 3.50000e-05 ... 1.07935e-01 1.35870e-01 2.13700e-01 4.00425e-01 4.99890e-01], "bayesian blocks" binning strategy used)

Value	Count	Frequency (%)
0	24047	36.9%
1e-05	3263	5.0%
3e-05	2321	3.6%
2e-05	2037	3.1%
4e-05	1013	1.6%
5e-05	881	1.4%
7e-05	841	1.3%
6e-05	665	1.0%
8e-05	663	1.0%
0.00012	492	0.8%
Other values (6657)	28965	44.4%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	24047	36.9%
1e-05	3263	5.0%
2e-05	2037	3.1%
3e-05	2321	3.6%
4e-05	1013	1.6%

Value	Count	Frequency (%)
0.49989	1	< 0.1%
0.49974	1	< 0.1%
0.49967	1	< 0.1%
0.49962	1	< 0.1%
0.4996	1	< 0.1%

AF_TGP
Real number (ℝ_≥0)

ZEROS

Distinct count	2087
Unique (%)	3.2%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	0.01526349635
Minimum	0
Maximum	0.4998
Zeros	37972
Zeros (%)	58.2%
Memory size	509.4 KiB

Quantile statistics

Minimum	0
5-th percentile	0
Q1	0
median	0
Q3	0.0016
95-th percentile	0.0837
Maximum	0.4998
Range	0.4998
Interquartile range (IQR)	0.0016

Descriptive statistics

Standard deviation	0.05952740749
Coefficient of variation (CV)	3.899985045
Kurtosis	30.43211765
Mean	0.01526349635
Median Absolute Deviation (MAD)	0.02538392379
Skewness	5.328800456
Sum	994.9968
Variance	0.003543512242

Histogram
Dynamic Histogram

Histogram with fixed size bins (bins=10)

Histogram with variable size bins (bins=[0.000e+00 1.000e-04 2.500e-04 3.500e-04 4.500e-04 ... 7.920e-02 1.125e-01 1.644e-01 2.723e-01 4.998e-01], "bayesian blocks" binning strategy used)

Value	Count	Frequency (%)
0	37972	58.2%
0.0002	3786	5.8%
0.0004	2073	3.2%
0.0006	1352	2.1%
0.0008	1059	1.6%
0.001	872	1.3%
0.0012	679	1.0%
0.0014	609	0.9%
0.0016	584	0.9%
0.0018	472	0.7%
Other values (2077)	15730	24.1%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	37972	58.2%
0.0002	3786	5.8%
0.0003	129	0.2%
0.0004	2073	3.2%
0.0005	85	0.1%

Value	Count	Frequency (%)
0.4998	1	< 0.1%
0.4994	1	< 0.1%
0.499	1	< 0.1%
0.4984	1	< 0.1%
0.4976	1	< 0.1%

CLNDISDB
Categorical

HIGH CARDINALITY

Distinct count	9234
Unique (%)	14.2%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

MedGen:CN169374	5344
MedGen:C0027672,SNOMED_CT:699346009\|MedGen:CN169374	1724
MedGen:CN169374\|MedGen:CN517202	1398
MedGen:C0027672,SNOMED_CT:699346009	1139
MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922\|MedGen:C1858763,OMIM:604145\|MedGen:CN169374	913
Other values (9229)	54670

Value	Count	Frequency (%)
MedGen:CN169374	5344	8.2%
MedGen:C0027672,SNOMED_CT:699346009\|MedGen:CN169374	1724	2.6%
MedGen:CN169374\|MedGen:CN517202	1398	2.1%
MedGen:C0027672,SNOMED_CT:699346009	1139	1.7%
MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922\|MedGen:C1858763,OMIM:604145\|MedGen:CN169374	913	1.4%
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000	732	1.1%
MedGen:C0004135,OMIM:208900,Orphanet:ORPHA100,SNOMED_CT:68504005\|MedGen:C0027672,SNOMED_CT:699346009	608	0.9%
MedGen:C0027672,SNOMED_CT:699346009\|MedGen:C0346153,OMIM:114480,Orphanet:ORPHA227535,SNOMED_CT:254843006	561	0.9%
Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244\|MedGen:CN169374	526	0.8%
MedGen:C0027672,SNOMED_CT:699346009\|MedGen:C0027831,OMIM:162200,Orphanet:ORPHA636,SNOMED_CT:92824003	513	0.8%
Other values (9224)	51730	79.4%

Length

Max length	2417
Mean length	87.45106461
Min length	15

Value	Count	Frequency (%)
Uppercase_Letter	15	34.1%
Lowercase_Letter	14	31.8%
Decimal_Number	10	22.7%
Other_Punctuation	3	6.8%
Connector_Punctuation	1	2.3%
Math_Symbol	1	2.3%

Value	Count	Frequency (%)
Latin	29	65.9%
Common	15	34.1%

Value	Count	Frequency (%)
ASCII	44	100.0%

CLNDISDBINCL
Categorical

HIGH CARDINALITY
MISSING

Distinct count	93
Unique (%)	55.7%
Missing	65021
Missing (%)	99.7%
Memory size	509.4 KiB

MedGen:CN169374	11
.	11
MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004	8
MeSH:C535804,MedGen:C1855465,OMIM:248200	6
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000	6
Other values (88)	125

Value	Count	Frequency (%)
MedGen:CN169374	11	< 0.1%
.	11	< 0.1%
MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004	8	< 0.1%
MeSH:C535804,MedGen:C1855465,OMIM:248200	6	< 0.1%
MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000	6	< 0.1%
MedGen:C0031069,OMIM:249100,Orphanet:ORPHA342,SNOMED_CT:12579009	4	< 0.1%
MedGen:C0007959,Orphanet:ORPHA166,SNOMED_CT:50548001	4	< 0.1%
MedGen:CN029323,OMIM:601144	3	< 0.1%
MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008	3	< 0.1%
MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268	3	< 0.1%
Other values (83)	108	0.2%
(Missing)	65021	99.7%

Length

Max length	227
Mean length	3.126618396
Min length	1

Value	Count	Frequency (%)
Lowercase_Letter	14	32.6%
Uppercase_Letter	14	32.6%
Decimal_Number	10	23.3%
Other_Punctuation	3	7.0%
Math_Symbol	1	2.3%
Connector_Punctuation	1	2.3%

Value	Count	Frequency (%)
Latin	28	65.1%
Common	15	34.9%

Value	Count	Frequency (%)
ASCII	43	100.0%

CLNDN
Categorical

HIGH CARDINALITY

Distinct count	9260
Unique (%)	14.2%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

not_specified	5344
Hereditary_cancer-predisposing_syndrome\|not_specified	1724
not_specified\|not_provided	1398
Hereditary_cancer-predisposing_syndrome	1139
Limb-girdle_muscular_dystrophy,_type_2J\|Dilated_cardiomyopathy_1G\|not_specified	913
Other values (9255)	54670

Value	Count	Frequency (%)
not_specified	5344	8.2%
Hereditary_cancer-predisposing_syndrome\|not_specified	1724	2.6%
not_specified\|not_provided	1398	2.1%
Hereditary_cancer-predisposing_syndrome	1139	1.7%
Limb-girdle_muscular_dystrophy,_type_2J\|Dilated_cardiomyopathy_1G\|not_specified	913	1.4%
Familial_hypercholesterolemia	732	1.1%
Ataxia-telangiectasia_syndrome\|Hereditary_cancer-predisposing_syndrome	608	0.9%
Hereditary_cancer-predisposing_syndrome\|Familial_cancer_of_breast	561	0.9%
Ciliary_dyskinesia\|not_specified	526	0.8%
Hereditary_cancer-predisposing_syndrome\|Neurofibromatosis,_type_1	513	0.8%
Other values (9250)	51730	79.4%

Length

Max length	996
Mean length	70.96818433
Min length	9

Value	Count	Frequency (%)
Lowercase_Letter	29	37.2%
Uppercase_Letter	26	33.3%
Decimal_Number	10	12.8%
Other_Punctuation	6	7.7%
Math_Symbol	2	2.6%
Modifier_Symbol	1	1.3%
Open_Punctuation	1	1.3%
Close_Punctuation	1	1.3%
Dash_Punctuation	1	1.3%
Connector_Punctuation	1	1.3%

Value	Count	Frequency (%)
Latin	55	70.5%
Common	23	29.5%

Value	Count	Frequency (%)
ASCII	75	100.0%

CLNDNINCL
Categorical

HIGH CARDINALITY
MISSING

Distinct count	101
Unique (%)	60.5%
Missing	65021
Missing (%)	99.7%
Memory size	509.4 KiB

not_specified	11
Biotinidase_deficiency	8
Stargardt_disease_1	6
Familial_hypercholesterolemia	6
Charcot-Marie-Tooth_disease	4
Other values (96)	132

Value	Count	Frequency (%)
not_specified	11	< 0.1%
Biotinidase_deficiency	8	< 0.1%
Stargardt_disease_1	6	< 0.1%
Familial_hypercholesterolemia	6	< 0.1%
Charcot-Marie-Tooth_disease	4	< 0.1%
Familial_Mediterranean_fever	4	< 0.1%
Merosin_deficient_congenital_muscular_dystrophy	3	< 0.1%
Limb-girdle_muscular_dystrophy,_type_2B	3	< 0.1%
Brugada_syndrome_1	3	< 0.1%
Wilson_disease	3	< 0.1%
Other values (91)	116	0.2%
(Missing)	65021	99.7%

Length

Max length	180
Mean length	3.087301344
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	26	38.2%
Uppercase_Letter	25	36.8%
Decimal_Number	10	14.7%
Other_Punctuation	2	2.9%
Math_Symbol	1	1.5%
Open_Punctuation	1	1.5%
Close_Punctuation	1	1.5%
Dash_Punctuation	1	1.5%
Connector_Punctuation	1	1.5%

Value	Count	Frequency (%)
Latin	51	75.0%
Common	17	25.0%

Value	Count	Frequency (%)
ASCII	68	100.0%

CLNHGVS
Categorical

HIGH CARDINALITY
UNIFORM
UNIQUE

Distinct count	65188
Unique (%)	100.0%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

NC_000005.9:g.112155019C>T	1
NC_000017.10:g.41243899A>G	1
NC_000013.10:g.32937450C>T	1
NC_000011.9:g.17542554C>A	1
NC_000017.10:g.41215378G>A	1
Other values (65183)	65183

Value	Count	Frequency (%)
NC_000005.9:g.112155019C>T	1	< 0.1%
NC_000017.10:g.41243899A>G	1	< 0.1%
NC_000013.10:g.32937450C>T	1	< 0.1%
NC_000011.9:g.17542554C>A	1	< 0.1%
NC_000017.10:g.41215378G>A	1	< 0.1%
NC_000017.10:g.39913781G>A	1	< 0.1%
NC_000011.9:g.108158412G>A	1	< 0.1%
NC_000016.9:g.57931805C>T	1	< 0.1%
NC_000001.10:g.45799001C>T	1	< 0.1%
NC_000017.10:g.59934436G>C	1	< 0.1%
Other values (65178)	65178	> 99.9%

Length

Max length	102
Mean length	26.42133522
Min length	20

Value	Count	Frequency (%)
Lowercase_Letter	11	34.4%
Decimal_Number	10	31.2%
Uppercase_Letter	5	15.6%
Other_Punctuation	2	6.2%
Math_Symbol	1	3.1%
Open_Punctuation	1	3.1%
Close_Punctuation	1	3.1%
Connector_Punctuation	1	3.1%

Value	Count	Frequency (%)
Latin	16	50.0%
Common	16	50.0%

Value	Count	Frequency (%)
ASCII	32	100.0%

CLNSIGINCL
Categorical

HIGH CARDINALITY
MISSING
UNIFORM

Distinct count	137
Unique (%)	82.0%
Missing	65021
Missing (%)	99.7%
Memory size	509.4 KiB

424754:Likely_pathogenic	2
4299:Pathogenic	2
495755:Pathogenic	2
236068:Pathogenic	2
424791:Likely_pathogenic	2
Other values (132)	157

Value	Count	Frequency (%)
424754:Likely_pathogenic	2	< 0.1%
4299:Pathogenic	2	< 0.1%
495755:Pathogenic	2	< 0.1%
236068:Pathogenic	2	< 0.1%
424791:Likely_pathogenic	2	< 0.1%
487487:Pathogenic	2	< 0.1%
12182:Pathogenic	2	< 0.1%
440849:Pathogenic	2	< 0.1%
2067:risk_factor	2	< 0.1%
219354:Pathogenic	2	< 0.1%
Other values (127)	147	0.2%
(Missing)	65021	99.7%

Length

Max length	128
Mean length	3.04849052
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	17	47.2%
Decimal_Number	10	27.8%
Uppercase_Letter	5	13.9%
Other_Punctuation	2	5.6%
Math_Symbol	1	2.8%
Connector_Punctuation	1	2.8%

Value	Count	Frequency (%)
Latin	22	61.1%
Common	14	38.9%

Value	Count	Frequency (%)
ASCII	36	100.0%

CLNVC
Categorical

Distinct count	7
Unique (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

single_nucleotide_variant	61281
Deletion	2509
Duplication	1034
Indel	247
Insertion	95
Other values (2)	22

Value	Count	Frequency (%)
single_nucleotide_variant	61281	94.0%
Deletion	2509	3.8%
Duplication	1034	1.6%
Indel	247	0.4%
Insertion	95	0.1%
Inversion	17	< 0.1%
Microsatellite	5	< 0.1%

Length

Max length	25
Mean length	24.01951279
Min length	5

Value	Count	Frequency (%)
Lowercase_Letter	15	78.9%
Uppercase_Letter	3	15.8%
Connector_Punctuation	1	5.3%

Value	Count	Frequency (%)
Latin	18	94.7%
Common	1	5.3%

Value	Count	Frequency (%)
ASCII	19	100.0%

CLNVI
Categorical

HIGH CARDINALITY
MISSING
UNIFORM

Distinct count	27654
Unique (%)	> 99.9%
Missing	37529
Missing (%)	57.6%
Memory size	509.4 KiB

OMIM_Allelic_Variant:609332.0008	2
UniProtKB_(protein):Q06124#VAR_027184	2
UniProtKB_(protein):Q06124#VAR_015610	2
UniProtKB_(protein):P38398#VAR_020691	2
UniProtKB_(protein):P38398#VAR_007765	2
Other values (27649)	27649

Value	Count	Frequency (%)
OMIM_Allelic_Variant:609332.0008	2	< 0.1%
UniProtKB_(protein):Q06124#VAR_027184	2	< 0.1%
UniProtKB_(protein):Q06124#VAR_015610	2	< 0.1%
UniProtKB_(protein):P38398#VAR_020691	2	< 0.1%
UniProtKB_(protein):P38398#VAR_007765	2	< 0.1%
Illumina_Clinical_Services_Laboratory,Illumina:206764	1	< 0.1%
ARUP_Laboratories,_Molecular_Genetics_and_Genomics:103098\|Illumina_Clinical_Services_Laboratory,Illumina:126522	1	< 0.1%
Illumina_Clinical_Services_Laboratory,Illumina:651733	1	< 0.1%
UniProtKB_(protein):P38398#VAR_070477	1	< 0.1%
OMIM_Allelic_Variant:607585.0028\|OMIM_Allelic_Variant:607585.0029	1	< 0.1%
Other values (27644)	27644	42.4%
(Missing)	37529	57.6%

Length

Max length	585
Mean length	27.46433393
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	31	37.8%
Uppercase_Letter	26	31.7%
Decimal_Number	10	12.2%
Other_Punctuation	8	9.8%
Math_Symbol	3	3.7%
Open_Punctuation	1	1.2%
Close_Punctuation	1	1.2%
Dash_Punctuation	1	1.2%
Connector_Punctuation	1	1.2%

Value	Count	Frequency (%)
Latin	57	69.5%
Common	25	30.5%

Value	Count	Frequency (%)
ASCII	77	100.0%

MC
Categorical

HIGH CARDINALITY
MISSING

Distinct count	90
Unique (%)	0.1%
Missing	846
Missing (%)	1.3%
Memory size	509.4 KiB

SO:0001583\|missense_variant	28457
SO:0001819\|synonymous_variant	16549
SO:0001627\|intron_variant	7534
SO:0001583\|missense_variant,SO:0001627\|intron_variant	2803
SO:0001589\|frameshift_variant	1622
Other values (85)	7377

Value	Count	Frequency (%)
SO:0001583\|missense_variant	28457	43.7%
SO:0001819\|synonymous_variant	16549	25.4%
SO:0001627\|intron_variant	7534	11.6%
SO:0001583\|missense_variant,SO:0001627\|intron_variant	2803	4.3%
SO:0001589\|frameshift_variant	1622	2.5%
SO:0001587\|nonsense	1573	2.4%
SO:0001627\|intron_variant,SO:0001819\|synonymous_variant	1148	1.8%
SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	724	1.1%
SO:0001623\|5_prime_UTR_variant	516	0.8%
SO:0001575\|splice_donor_variant	504	0.8%
Other values (80)	2912	4.5%
(Missing)	846	1.3%

Length

Max length	121
Mean length	30.09966558
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	19	47.5%
Decimal_Number	10	25.0%
Uppercase_Letter	7	17.5%
Other_Punctuation	2	5.0%
Connector_Punctuation	1	2.5%
Math_Symbol	1	2.5%

Value	Count	Frequency (%)
Latin	26	65.0%
Common	14	35.0%

Value	Count	Frequency (%)
ASCII	40	100.0%

ORIGIN
Real number (ℝ_≥0)

SKEWED

Distinct count	31
Unique (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Infinite	0
Infinite (%)	0.0%

Mean	1.342486347
Minimum	0
Maximum	513
Zeros	14
Zeros (%)	< 0.1%
Memory size	509.4 KiB

Quantile statistics

Minimum	0
5-th percentile	1
Q1	1
median	1
Q3	1
95-th percentile	1
Maximum	513
Range	513
Interquartile range (IQR)	0

Descriptive statistics

Standard deviation	5.688771576
Coefficient of variation (CV)	4.237489333
Kurtosis	6034.475043
Mean	1.342486347
Median Absolute Deviation (MAD)	0.6724357811
Skewness	68.58619745
Sum	87514
Variance	32.36212205

Histogram
Dynamic Histogram

Histogram with fixed size bins (bins=10)

Histogram with variable size bins (bins=[0.00e+00 5.00e-01 1.50e+00 2.50e+00 3.50e+00 ... 3.25e+01 3.40e+01 5.10e+01 6.70e+01 5.13e+02], "bayesian blocks" binning strategy used)

Value	Count	Frequency (%)
1	63940	98.1%
33	330	0.5%
3	270	0.4%
5	200	0.3%
17	189	0.3%
9	144	0.2%
25	21	< 0.1%
49	16	< 0.1%
0	14	< 0.1%
32	11	< 0.1%
Other values (21)	53	0.1%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0	14	< 0.1%
1	63940	98.1%
2	5	< 0.1%
3	270	0.4%
4	3	< 0.1%

Value	Count	Frequency (%)
513	6	< 0.1%
129	1	< 0.1%
85	1	< 0.1%
69	1	< 0.1%
65	6	< 0.1%

SSR
Categorical

MISSING

Distinct count	2
Unique (%)	1.5%
Missing	65058
Missing (%)	99.8%
Memory size	509.4 KiB

1	119
16	11

Value	Count	Frequency (%)
1	119	0.2%
16	11	< 0.1%
(Missing)	65058	99.8%

Length

Max length	4
Mean length	3.000168743
Min length	3

Value	Count	Frequency (%)
Decimal_Number	3	50.0%
Lowercase_Letter	2	33.3%
Other_Punctuation	1	16.7%

Value	Count	Frequency (%)
Common	4	66.7%
Latin	2	33.3%

Value	Count	Frequency (%)
ASCII	6	100.0%

CLASS
Boolean

Distinct count	2
Unique (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

0	48754
1	16434

Frequency Table

Value	Count	Frequency (%)
0	48754	74.8%
1	16434	25.2%

Allele
Categorical

HIGH CARDINALITY

Distinct count	374
Unique (%)	0.6%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

T	19991
A	19800
G	11397
C	10761
-	2510
Other values (369)	729

Value	Count	Frequency (%)
T	19991	30.7%
A	19800	30.4%
G	11397	17.5%
C	10761	16.5%
-	2510	3.9%
AA	46	0.1%
TT	38	0.1%
AT	20	< 0.1%
CA	19	< 0.1%
CT	17	< 0.1%
Other values (364)	589	0.9%

Length

Max length	99
Mean length	1.054979444
Min length	1

Value	Count	Frequency (%)
Uppercase_Letter	4	80.0%
Dash_Punctuation	1	20.0%

Value	Count	Frequency (%)
Latin	4	80.0%
Common	1	20.0%

Value	Count	Frequency (%)
ASCII	5	100.0%

Consequence
Categorical

Distinct count	48
Unique (%)	0.1%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

missense_variant	31444
synonymous_variant	17668
intron_variant	4403
splice_region_variant&intron_variant	3393
frameshift_variant	1774
Other values (43)	6506

Value	Count	Frequency (%)
missense_variant	31444	48.2%
synonymous_variant	17668	27.1%
intron_variant	4403	6.8%
splice_region_variant&intron_variant	3393	5.2%
frameshift_variant	1774	2.7%
stop_gained	1702	2.6%
missense_variant&splice_region_variant	964	1.5%
5_prime_UTR_variant	626	1.0%
inframe_deletion	583	0.9%
splice_region_variant&synonymous_variant	552	0.8%
Other values (38)	2079	3.2%

Length

Max length	62
Mean length	18.12206234
Min length	9

Value	Count	Frequency (%)
Lowercase_Letter	22	73.3%
Uppercase_Letter	4	13.3%
Decimal_Number	2	6.7%
Other_Punctuation	1	3.3%
Connector_Punctuation	1	3.3%

Value	Count	Frequency (%)
Latin	26	86.7%
Common	4	13.3%

Value	Count	Frequency (%)
ASCII	30	100.0%

IMPACT
Categorical

Distinct count	4
Unique (%)	< 0.1%
Missing	0
Missing (%)	0.0%
Memory size	509.4 KiB

MODERATE	33212
LOW	21642
MODIFIER	5582
HIGH	4752

Value	Count	Frequency (%)
MODERATE	33212	50.9%
LOW	21642	33.2%
MODIFIER	5582	8.6%
HIGH	4752	7.3%

Length

Max length	8
Mean length	6.048444499
Min length	3

Value	Count	Frequency (%)
Uppercase_Letter	13	100.0%

Value	Count	Frequency (%)
Latin	13	100.0%

Value	Count	Frequency (%)
ASCII	13	100.0%

SYMBOL
Categorical

HIGH CARDINALITY

Distinct count	2328
Unique (%)	3.6%
Missing	16
Missing (%)	< 0.1%
Memory size	509.4 KiB

TTN	2765
BRCA2	1934
ATM	1909
APC	1228
BRCA1	1075
Other values (2323)	56261

Value	Count	Frequency (%)
TTN	2765	4.2%
BRCA2	1934	3.0%
ATM	1909	2.9%
APC	1228	1.9%
BRCA1	1075	1.6%
MSH6	1048	1.6%
LDLR	905	1.4%
PALB2	794	1.2%
NF1	732	1.1%
TSC2	640	1.0%
Other values (2318)	52142	80.0%

Length

Max length	12
Mean length	4.607765233
Min length	2

Value	Count	Frequency (%)
Uppercase_Letter	26	61.9%
Decimal_Number	10	23.8%
Lowercase_Letter	5	11.9%
Dash_Punctuation	1	2.4%

Value	Count	Frequency (%)
Latin	31	73.8%
Common	11	26.2%

Value	Count	Frequency (%)
ASCII	42	100.0%

Feature_type
Categorical

Distinct count	2
Unique (%)	< 0.1%
Missing	14
Missing (%)	< 0.1%
Memory size	509.4 KiB

Transcript	65172
MotifFeature	2

Value	Count	Frequency (%)
Transcript	65172	> 99.9%
MotifFeature	2	< 0.1%
(Missing)	14	< 0.1%

Length

Max length	12
Mean length	9.998558017
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	12	80.0%
Uppercase_Letter	3	20.0%

Value	Count	Frequency (%)
Latin	15	100.0%

Value	Count	Frequency (%)
ASCII	15	100.0%

Feature
Categorical

HIGH CARDINALITY

Distinct count	2369
Unique (%)	3.6%
Missing	14
Missing (%)	< 0.1%
Memory size	509.4 KiB

NM_001267550.1	2765
NM_000059.3	1934
NM_000051.3	1909
XM_005271975.1	1228
NM_007300.3	1075
Other values (2364)	56263

Value	Count	Frequency (%)
NM_001267550.1	2765	4.2%
NM_000059.3	1934	3.0%
NM_000051.3	1909	2.9%
XM_005271975.1	1228	1.9%
NM_007300.3	1075	1.6%
NM_000179.2	1048	1.6%
NM_000527.4	905	1.4%
NM_024675.3	794	1.2%
XM_005257983.1	732	1.1%
XM_005255527.1	640	1.0%
Other values (2359)	52144	80.0%

Length

Max length	17
Mean length	12.22257164
Min length	3

Value	Count	Frequency (%)
Decimal_Number	10	43.5%
Lowercase_Letter	6	26.1%
Uppercase_Letter	5	21.7%
Other_Punctuation	1	4.3%
Connector_Punctuation	1	4.3%

Value	Count	Frequency (%)
Common	12	52.2%
Latin	11	47.8%

Value	Count	Frequency (%)
ASCII	23	100.0%

BIOTYPE
Categorical

Distinct count	2
Unique (%)	< 0.1%
Missing	16
Missing (%)	< 0.1%
Memory size	509.4 KiB

protein_coding	65158
misc_RNA	14

Value	Count	Frequency (%)
protein_coding	65158	> 99.9%
misc_RNA	14	< 0.1%
(Missing)	16	< 0.1%

Length

Max length	14
Mean length	13.99601154
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	13	76.5%
Uppercase_Letter	3	17.6%
Connector_Punctuation	1	5.9%

Value	Count	Frequency (%)
Latin	16	94.1%
Common	1	5.9%

Value	Count	Frequency (%)
ASCII	17	100.0%

EXON
Categorical

HIGH CARDINALITY
MISSING

Distinct count	3264
Unique (%)	5.8%
Missing	8893
Missing (%)	13.6%
Memory size	509.4 KiB

16/16	1129
11/27	807
4/10	752
3/3	581
2/2	570
Other values (3259)	52456

Value	Count	Frequency (%)
16/16	1129	1.7%
11/27	807	1.2%
4/10	752	1.2%
3/3	581	0.9%
2/2	570	0.9%
10/24	525	0.8%
4/13	368	0.6%
326/363	368	0.6%
4/4	354	0.5%
4/11	342	0.5%
Other values (3254)	50499	77.5%
(Missing)	8893	13.6%

Length

Max length	7
Mean length	4.305700436
Min length	3

Value	Count	Frequency (%)
Decimal_Number	10	76.9%
Lowercase_Letter	2	15.4%
Other_Punctuation	1	7.7%

Value	Count	Frequency (%)
Common	11	84.6%
Latin	2	15.4%

Value	Count	Frequency (%)
ASCII	13	100.0%

INTRON
Categorical

HIGH CARDINALITY
MISSING

Distinct count	1929
Unique (%)	21.9%
Missing	56385
Missing (%)	86.5%
Memory size	509.4 KiB

47/362	93
2/9	68
3/9	65
4/9	54
5/9	54
Other values (1924)	8469

Value	Count	Frequency (%)
47/362	93	0.1%
2/9	68	0.1%
3/9	65	0.1%
4/9	54	0.1%
5/9	54	0.1%
5/15	53	0.1%
8/9	51	0.1%
9/9	51	0.1%
7/9	48	0.1%
10/15	47	0.1%
Other values (1919)	8219	12.6%
(Missing)	56385	86.5%

Length

Max length	7
Mean length	3.198288028
Min length	3

Value	Count	Frequency (%)
Decimal_Number	10	76.9%
Lowercase_Letter	2	15.4%
Other_Punctuation	1	7.7%

Value	Count	Frequency (%)
Common	11	84.6%
Latin	2	15.4%

Value	Count	Frequency (%)
ASCII	13	100.0%

cDNA_position
Categorical

HIGH CARDINALITY
MISSING

Distinct count	13970
Unique (%)	24.8%
Missing	8884
Missing (%)	13.6%
Memory size	509.4 KiB

852	31
878	30
729	29
433	29
452	29
Other values (13965)	56156

Value	Count	Frequency (%)
852	31	< 0.1%
878	30	< 0.1%
729	29	< 0.1%
433	29	< 0.1%
452	29	< 0.1%
789	29	< 0.1%
1201	29	< 0.1%
432	28	< 0.1%
566	28	< 0.1%
1253	28	< 0.1%
Other values (13960)	56014	85.9%
(Missing)	8884	13.6%

Length

Max length	13
Mean length	3.839924526
Min length	1

Value	Count	Frequency (%)
Decimal_Number	10	71.4%
Lowercase_Letter	2	14.3%
Other_Punctuation	1	7.1%
Dash_Punctuation	1	7.1%

Value	Count	Frequency (%)
Common	12	85.7%
Latin	2	14.3%

Value	Count	Frequency (%)
ASCII	14	100.0%

CDS_position
Categorical

HIGH CARDINALITY
MISSING

Distinct count	13663
Unique (%)	24.7%
Missing	9955
Missing (%)	15.3%
Memory size	509.4 KiB

1	36
696	35
465	32
379	32
402	31
Other values (13658)	55067

Value	Count	Frequency (%)
1	36	0.1%
696	35	0.1%
465	32	< 0.1%
379	32	< 0.1%
402	31	< 0.1%
207	30	< 0.1%
456	30	< 0.1%
769	30	< 0.1%
606	30	< 0.1%
27	30	< 0.1%
Other values (13653)	54917	84.2%
(Missing)	9955	15.3%

Length

Max length	13
Mean length	3.734935878
Min length	1

Value	Count	Frequency (%)
Decimal_Number	10	71.4%
Lowercase_Letter	2	14.3%
Other_Punctuation	1	7.1%
Dash_Punctuation	1	7.1%

Value	Count	Frequency (%)
Common	12	85.7%
Latin	2	14.3%

Value	Count	Frequency (%)
ASCII	14	100.0%

Protein_position
Categorical

HIGH CARDINALITY
MISSING

Distinct count	7339
Unique (%)	13.3%
Missing	9955
Missing (%)	15.3%
Memory size	509.4 KiB

1	100
27	80
127	78
69	75
12	74
Other values (7334)	54826

Value	Count	Frequency (%)
1	100	0.2%
27	80	0.1%
127	78	0.1%
69	75	0.1%
12	74	0.1%
158	73	0.1%
11	72	0.1%
57	71	0.1%
155	71	0.1%
196	71	0.1%
Other values (7329)	54468	83.6%
(Missing)	9955	15.3%

Length

Max length	11
Mean length	3.261919372
Min length	1

Value	Count	Frequency (%)
Decimal_Number	10	71.4%
Lowercase_Letter	2	14.3%
Other_Punctuation	1	7.1%
Dash_Punctuation	1	7.1%

Value	Count	Frequency (%)
Common	12	85.7%
Latin	2	14.3%

Value	Count	Frequency (%)
ASCII	14	100.0%

Amino_acids
Categorical

HIGH CARDINALITY
MISSING

Distinct count	1262
Unique (%)	2.3%
Missing	10004
Missing (%)	15.3%
Memory size	509.4 KiB

A	2005
L	2003
P	1858
S	1710
T	1677
Other values (1257)	45931

Value	Count	Frequency (%)
A	2005	3.1%
L	2003	3.1%
P	1858	2.9%
S	1710	2.6%
T	1677	2.6%
R/Q	1421	2.2%
R/H	1350	2.1%
G	1121	1.7%
R/C	1118	1.7%
A/T	1042	1.6%
Other values (1252)	39879	61.2%
(Missing)	10004	15.3%

Length

Max length	45
Mean length	2.494140026
Min length	1

Value	Count	Frequency (%)
Uppercase_Letter	21	80.8%
Other_Punctuation	2	7.7%
Lowercase_Letter	2	7.7%
Dash_Punctuation	1	3.8%

Value	Count	Frequency (%)
Latin	23	88.5%
Common	3	11.5%

Value	Count	Frequency (%)
ASCII	26	100.0%

Codons
Categorical

HIGH CARDINALITY
MISSING

Distinct count	2220
Unique (%)	4.0%
Missing	10004
Missing (%)	15.3%
Memory size	509.4 KiB

cGg/cAg	915
Cgg/Tgg	852
cGc/cAc	769
Cga/Tga	734
Cgc/Tgc	730
Other values (2215)	51184

Value	Count	Frequency (%)
cGg/cAg	915	1.4%
Cgg/Tgg	852	1.3%
cGc/cAc	769	1.2%
Cga/Tga	734	1.1%
Cgc/Tgc	730	1.1%
gaC/gaT	701	1.1%
gcG/gcA	681	1.0%
Gtg/Atg	680	1.0%
ccG/ccA	643	1.0%
gcC/gcT	614	0.9%
Other values (2210)	47865	73.4%
(Missing)	10004	15.3%

Length

Max length	133
Mean length	6.490013499
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	5	45.5%
Uppercase_Letter	4	36.4%
Other_Punctuation	1	9.1%
Dash_Punctuation	1	9.1%

Value	Count	Frequency (%)
Latin	9	81.8%
Common	2	18.2%

Value	Count	Frequency (%)
ASCII	11	100.0%

DISTANCE
Real number (ℝ_≥0)

MISSING

Distinct count	96
Unique (%)	88.9%
Missing	65080
Missing (%)	99.8%
Infinite	0
Infinite (%)	0.0%

Mean	825.7314815
Minimum	1
Maximum	4759
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	1
5-th percentile	5
Q1	55.5
median	469
Q3	1415
95-th percentile	2272.2
Maximum	4759
Range	4758
Interquartile range (IQR)	1359.5

Descriptive statistics

Standard deviation	1069.363315
Coefficient of variation (CV)	1.295049709
Kurtosis	3.657808404
Mean	825.7314815
Median Absolute Deviation (MAD)	804.9283265
Skewness	1.87461385
Sum	89179
Variance	1143537.899

Histogram

Histogram with fixed size bins (bins=10)

Value	Count	Frequency (%)
28	3	< 0.1%
30	2	< 0.1%
11	2	< 0.1%
5	2	< 0.1%
13	2	< 0.1%
551	2	< 0.1%
87	2	< 0.1%
466	2	< 0.1%
56	2	< 0.1%
3	2	< 0.1%
Other values (86)	87	0.1%
(Missing)	65080	99.8%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
1	2	< 0.1%
3	2	< 0.1%
4	1	< 0.1%
5	2	< 0.1%
10	1	< 0.1%

Value	Count	Frequency (%)
4759	1	< 0.1%
4402	1	< 0.1%
4323	1	< 0.1%
4296	1	< 0.1%
4264	1	< 0.1%

STRAND
Categorical

HIGH CORRELATION

Distinct count	2
Unique (%)	< 0.1%
Missing	14
Missing (%)	< 0.1%
Memory size	509.4 KiB

-1	32804
1	32370

Value	Count	Frequency (%)
-1	32804	50.3%
1	32370	49.7%
(Missing)	14	< 0.1%

Length

Max length	4
Mean length	3.503221452
Min length	3

Value	Count	Frequency (%)
Decimal_Number	2	33.3%
Lowercase_Letter	2	33.3%
Other_Punctuation	1	16.7%
Dash_Punctuation	1	16.7%

Value	Count	Frequency (%)
Common	4	66.7%
Latin	2	33.3%

Value	Count	Frequency (%)
ASCII	6	100.0%

BAM_EDIT
Categorical

MISSING

Distinct count	2
Unique (%)	< 0.1%
Missing	33219
Missing (%)	51.0%
Memory size	509.4 KiB

OK	31707
FAILED	262

Value	Count	Frequency (%)
OK	31707	48.6%
FAILED	262	0.4%
(Missing)	33219	51.0%

Length

Max length	6
Mean length	2.525664233
Min length	2

Value	Count	Frequency (%)
Uppercase_Letter	8	80.0%
Lowercase_Letter	2	20.0%

Value	Count	Frequency (%)
Latin	10	100.0%

Value	Count	Frequency (%)
ASCII	10	100.0%

SIFT
Categorical

MISSING

Distinct count	4
Unique (%)	< 0.1%
Missing	40352
Missing (%)	61.9%
Memory size	509.4 KiB

deleterious	11500
tolerated	11484
tolerated_low_confidence	1077
deleterious_low_confidence	775

Value	Count	Frequency (%)
deleterious	11500	17.6%
tolerated	11484	17.6%
tolerated_low_confidence	1077	1.7%
deleterious_low_confidence	775	1.2%
(Missing)	40352	61.9%

Length

Max length	26
Mean length	6.088697306
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	14	93.3%
Connector_Punctuation	1	6.7%

Value	Count	Frequency (%)
Latin	14	93.3%
Common	1	6.7%

Value	Count	Frequency (%)
ASCII	15	100.0%

PolyPhen
Categorical

MISSING

Distinct count	4
Unique (%)	< 0.1%
Missing	40392
Missing (%)	62.0%
Memory size	509.4 KiB

benign	13329
probably_damaging	7531
possibly_damaging	3932
unknown	4

Value	Count	Frequency (%)
benign	13329	20.4%
probably_damaging	7531	11.6%
possibly_damaging	3932	6.0%
unknown	4	< 0.1%
(Missing)	40392	62.0%

Length

Max length	17
Mean length	6.075489354
Min length	3

Value	Count	Frequency (%)
Lowercase_Letter	17	94.4%
Connector_Punctuation	1	5.6%

Value	Count	Frequency (%)
Latin	17	94.4%
Common	1	5.6%

Value	Count	Frequency (%)
ASCII	18	100.0%

MOTIF_NAME
Categorical

MISSING
UNIFORM

Distinct count	2
Unique (%)	100.0%
Missing	65186
Missing (%)	> 99.9%
Memory size	509.4 KiB

Egr1:MA0341.1	1
FOXA1:MA0546.1	1

Value	Count	Frequency (%)
Egr1:MA0341.1	1	< 0.1%
FOXA1:MA0546.1	1	< 0.1%
(Missing)	65186	> 99.9%

Length

Max length	14
Mean length	3.000322145
Min length	3

Value	Count	Frequency (%)
Decimal_Number	6	33.3%
Uppercase_Letter	6	33.3%
Lowercase_Letter	4	22.2%
Other_Punctuation	2	11.1%

Value	Count	Frequency (%)
Latin	10	55.6%
Common	8	44.4%

Value	Count	Frequency (%)
ASCII	18	100.0%

MOTIF_POS
Boolean

MISSING

Distinct count	1
Unique (%)	50.0%
Missing	65186
Missing (%)	> 99.9%
Memory size	509.4 KiB

1	2
(Missing)	65186

Frequency Table

Value	Count	Frequency (%)
1	2	< 0.1%
(Missing)	65186	> 99.9%

HIGH_INF_POS
Categorical

MISSING

Distinct count	1
Unique (%)	50.0%
Missing	65186
Missing (%)	> 99.9%
Memory size	509.4 KiB

N	2

Value	Count	Frequency (%)
N	2	< 0.1%
(Missing)	65186	> 99.9%

Length

Max length	3
Mean length	2.999938639
Min length	1

Value	Count	Frequency (%)
Lowercase_Letter	2	66.7%
Uppercase_Letter	1	33.3%

Value	Count	Frequency (%)
Latin	3	100.0%

Value	Count	Frequency (%)
ASCII	3	100.0%

MOTIF_SCORE_CHANGE
Categorical

HIGH CORRELATION
MISSING
UNIFORM

Distinct count	2
Unique (%)	100.0%
Missing	65186
Missing (%)	> 99.9%
Memory size	509.4 KiB

-0.063	1
-0.097	1

Value	Count	Frequency (%)
-0.063	1	< 0.1%
-0.097	1	< 0.1%
(Missing)	65186	> 99.9%

Length

Max length	20
Mean length	3.000306805
Min length	3

Value	Count	Frequency (%)
Decimal_Number	4	50.0%
Lowercase_Letter	2	25.0%
Other_Punctuation	1	12.5%
Dash_Punctuation	1	12.5%

Value	Count	Frequency (%)
Common	6	75.0%
Latin	2	25.0%

Value	Count	Frequency (%)
ASCII	8	100.0%

LoFtool
Real number (ℝ_≥0)

MISSING

Distinct count	1195
Unique (%)	2.0%
Missing	4213
Missing (%)	6.5%
Infinite	0
Infinite (%)	0.0%

Mean	0.3450584315
Minimum	6.89e-05
Maximum	1
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	6.89e-05
5-th percentile	0.00145
Q1	0.0243
median	0.157
Q3	0.71
95-th percentile	0.971
Maximum	1
Range	0.9999311
Interquartile range (IQR)	0.6857

Descriptive statistics

Standard deviation	0.3612384434
Coefficient of variation (CV)	1.046890644
Kurtosis	-1.201434912
Mean	0.3450584315
Median Absolute Deviation (MAD)	0.3223397243
Skewness	0.6522583053
Sum	21039.93786
Variance	0.130493213

Histogram

Histogram with fixed size bins (bins=10)

Value	Count	Frequency (%)
0.971	2836	4.4%
0.0896	1953	3.0%
0.782	1909	2.9%
0.00386	1228	1.9%
0.0212	1094	1.7%
0.00207	1075	1.6%
0.116	1068	1.6%
0.0737	905	1.4%
0.965	798	1.2%
0.000276	640	1.0%
Other values (1185)	47469	72.8%
(Missing)	4213	6.5%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
6.89e-05	60	0.1%
0.000138	162	0.2%
0.000207	118	0.2%
0.000276	640	1.0%
0.000344	197	0.3%

Value	Count	Frequency (%)
1	3	< 0.1%
0.999	3	< 0.1%
0.998	133	0.2%
0.997	45	0.1%
0.996	1	< 0.1%

CADD_PHRED
Real number (ℝ_≥0)

HIGH CORRELATION
MISSING

Distinct count	9324
Unique (%)	14.5%
Missing	1092
Missing (%)	1.7%
Infinite	0
Infinite (%)	0.0%

Mean	15.68561648
Minimum	0.001
Maximum	99
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	0.001
5-th percentile	0.07
Q1	7.141
median	14.09
Q3	24.1
95-th percentile	34
Maximum	99
Range	98.999
Interquartile range (IQR)	16.959

Descriptive statistics

Standard deviation	10.83635024
Coefficient of variation (CV)	0.690846308
Kurtosis	-0.3988884313
Mean	15.68561648
Median Absolute Deviation (MAD)	9.19150042
Skewness	0.3787342923
Sum	1005385.274
Variance	117.4264864

Histogram

Histogram with fixed size bins (bins=10)

Value	Count	Frequency (%)
34	1431	2.2%
35	1263	1.9%
33	931	1.4%
32	828	1.3%
0.001	509	0.8%
0.002	469	0.7%
31	458	0.7%
23	427	0.7%
23.1	412	0.6%
23.2	405	0.6%
Other values (9314)	56963	87.4%
(Missing)	1092	1.7%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
0.001	509	0.8%
0.002	469	0.7%
0.003	212	0.3%
0.004	144	0.2%
0.005	108	0.2%

Value	Count	Frequency (%)
99	1	< 0.1%
81	1	< 0.1%
79	1	< 0.1%
74	1	< 0.1%
73	1	< 0.1%

CADD_RAW
Real number (ℝ)

HIGH CORRELATION
MISSING

Distinct count	63803
Unique (%)	99.5%
Missing	1092
Missing (%)	1.7%
Infinite	0
Infinite (%)	0.0%

Mean	2.554131453
Minimum	-5.477391
Maximum	46.556261
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	-5.477391
5-th percentile	-0.70556925
Q1	0.46295075
median	1.6429485
Q3	4.38139175
95-th percentile	7.45498775
Maximum	46.556261
Range	52.033652
Interquartile range (IQR)	3.918441

Descriptive statistics

Standard deviation	2.961553499
Coefficient of variation (CV)	1.159514909
Kurtosis	5.94858469
Mean	2.554131453
Median Absolute Deviation (MAD)	2.309544805
Skewness	1.609072348
Sum	163709.6096
Variance	8.770799128

Histogram

Histogram with fixed size bins (bins=10)

Value	Count	Frequency (%)
1.463563	3	< 0.1%
5.456311	2	< 0.1%
3.363536	2	< 0.1%
1.344155	2	< 0.1%
-0.019198	2	< 0.1%
2.534534	2	< 0.1%
4.437403	2	< 0.1%
0.753203	2	< 0.1%
1.549289	2	< 0.1%
6.273175	2	< 0.1%
Other values (63793)	64075	98.3%
(Missing)	1092	1.7%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
-5.477391	1	< 0.1%
-4.682013	1	< 0.1%
-4.472198	1	< 0.1%
-4.450451	1	< 0.1%
-4.314148	1	< 0.1%

Value	Count	Frequency (%)
46.556261	1	< 0.1%
34.23672	1	< 0.1%
33.935525	1	< 0.1%
32.934203	1	< 0.1%
32.693999	1	< 0.1%

BLOSUM62
Real number (ℝ)

MISSING

Distinct count	6
Unique (%)	< 0.1%
Missing	39595
Missing (%)	60.7%
Infinite	0
Infinite (%)	0.0%

Mean	-0.40225843
Minimum	-3
Maximum	3
Zeros	0
Zeros (%)	0.0%
Memory size	509.4 KiB

Quantile statistics

Minimum	-3
5-th percentile	-3
Q1	-2
median	-1
Q3	1
95-th percentile	3
Maximum	3
Range	6
Interquartile range (IQR)	3

Descriptive statistics

Standard deviation	1.872684039
Coefficient of variation (CV)	-4.655425216
Kurtosis	-1.231940545
Mean	-0.40225843
Median Absolute Deviation (MAD)	1.689507893
Skewness	0.1193541477
Sum	-10295
Variance	3.506945509

Histogram

Histogram with fixed size bins (bins=10)

Value	Count	Frequency (%)
1	7696	11.8%
-1	5336	8.2%
-3	4450	6.8%
-2	4300	6.6%
2	2138	3.3%
3	1673	2.6%
(Missing)	39595	60.7%

Minimum 5 values
Maximum 5 values

Value	Count	Frequency (%)
-3	4450	6.8%
-2	4300	6.6%
-1	5336	8.2%
1	7696	11.8%
2	2138	3.3%

Value	Count	Frequency (%)
3	1673	2.6%
2	2138	3.3%
1	7696	11.8%
-1	5336	8.2%
-2	4300	6.6%

Pearson's r

The Pearson's correlation coefficient (r) is a measure of linear correlation between two variables. It's value lies between -1 and +1, -1 indicating total negative linear correlation, 0 indicating no linear correlation and 1 indicating total positive linear correlation. Furthermore, r is invariant under separate changes in location and scale of the two variables, implying that for a linear function the angle to the x-axis does not affect r.

To calculate r for two variables X and Y, one divides the covariance of X and Y by the product of their standard deviations.

Spearman's ρ

The Spearman's rank correlation coefficient (ρ) is a measure of monotonic correlation between two variables, and is therefore better in catching nonlinear monotonic correlations than Pearson's r. It's value lies between -1 and +1, -1 indicating total negative monotonic correlation, 0 indicating no monotonic correlation and 1 indicating total positive monotonic correlation.

To calculate ρ for two variables X and Y, one divides the covariance of the rank variables of X and Y by the product of their standard deviations.

Kendall's τ

Similarly to Spearman's rank correlation coefficient, the Kendall rank correlation coefficient (τ) measures ordinal association between two variables. It's value lies between -1 and +1, -1 indicating total negative correlation, 0 indicating no correlation and 1 indicating total positive correlation.

To calculate τ for two variables X and Y, one determines the number of concordant and discordant pairs of observations. τ is given by the number of concordant pairs minus the discordant pairs divided by the total number of pairs.

First rows

	CHROM	POS	REF	ALT	AF_ESP	AF_EXAC	AF_TGP	CLNDISDB	CLNDISDBINCL	CLNDN	CLNDNINCL	CLNHGVS	CLNSIGINCL	CLNVC	CLNVI	MC	ORIGIN	SSR	CLASS	Allele	Consequence	IMPACT	SYMBOL	Feature_type	Feature	BIOTYPE	EXON	INTRON	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	DISTANCE	STRAND	BAM_EDIT	SIFT	PolyPhen	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	LoFtool	CADD_PHRED	CADD_RAW	BLOSUM62
0	1	1168180	G	C	0.0771	0.10020	0.1066	MedGen:CN169374	NaN	not_specified	NaN	NC_000001.10:g.1168180G>C	NaN	single_nucleotide_variant	UniProtKB_(protein):Q96L58#VAR_059317	SO:0001583\|missense_variant	1	NaN	0	C	missense_variant	MODERATE	B3GALT6	Transcript	NM_080605.3	protein_coding	1/1	NaN	552	522	174	E/D	gaG/gaC	NaN	1.0	NaN	tolerated	benign	NaN	NaN	NaN	NaN	NaN	1.053	-0.208682	2.0
1	1	1470752	G	A	0.0000	0.00000	0.0000	MedGen:C1843891,OMIM:607454,Orphanet:ORPHA98773\|MedGen:CN517202	NaN	Spinocerebellar_ataxia_21\|not_provided	NaN	NC_000001.10:g.1470752G>A	NaN	single_nucleotide_variant	OMIM_Allelic_Variant:616101.0001\|UniProtKB_(protein):Q5SV17#VAR_071909	SO:0001583\|missense_variant	1	NaN	0	A	missense_variant	MODERATE	TMEM240	Transcript	NM_001114748.1	protein_coding	4/4	NaN	523	509	170	P/L	cCg/cTg	NaN	-1.0	OK	deleterious_low_confidence	benign	NaN	NaN	NaN	NaN	NaN	31.000	6.517838	-3.0
2	1	1737942	A	G	0.0000	0.00001	0.0000	Human_Phenotype_Ontology:HP:0000486,MedGen:C0038379\|Human_Phenotype_Ontology:HP:0000639,MedGen:C0028738\|Human_Phenotype_Ontology:HP:0000821,MedGen:C0020676,Orphanet:ORPHA181396\|Human_Phenotype_Ontology:HP:0001249,MedGen:C1843367\|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572\|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827\|Human_Phenotype_Ontology:HP:0001263,MedGen:C4020875\|Human_Phenotype_Ontology:HP:0001508,MedGen:C0231246\|Human_Phenotype_Ontology:HP:0001510,MedGen:C3552463\|Human_Phenotype_Ontology:HP:0002376,MedGen:C1855009\|Human_Phenotype_Ontology:HP:0002474,MedGen:C1847610\|Human_Phenotype_Ontology:HP:0002509,MedGen:C1838391\|Human_Phenotype_Ontology:HP:0002540,MedGen:C0560046\|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604\|Human_Phenotype_Ontology:HP:0010841,MedGen:C4021219\|Human_Phenotype_Ontology:HP:0011198,MedGen:C4023476\|Human_Phenotype_Ontology:HP:0200049,MedGen:C4021898\|MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:ORPHA52688\|MeSH:D030342,MedGen:C0950123\|MedGen:C0008925,Orphanet:ORPHA2014\|MedGen:C0393593,Orphanet:ORPHA68363\|MedGen:C4310774,OMIM:616973\|MedGen:CN517202	NaN	Strabismus\|Nystagmus\|Hypothyroidism\|Intellectual_disability\|Seizures\|Muscular_hypotonia\|Global_developmental_delay\|Failure_to_thrive\|Growth_delay\|Developmental_regression\|Expressive_language_delay\|Limb_hypertonia\|Inability_to_walk\|Infantile_axial_hypotonia\|Multifocal_epileptiform_discharges\|EEG_with_generalized_epileptiform_discharges\|Upper_limb_hypertonia\|Myelodysplastic_syndrome\|Inborn_genetic_diseases\|Cleft_palate\|Dystonia\|Mental_retardation,_autosomal_dominant_42\|not_provided	NaN	NC_000001.10:g.1737942A>G	NaN	single_nucleotide_variant	OMIM_Allelic_Variant:139380.0002\|UniProtKB_(protein):P62873#VAR_076648	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	35	NaN	1	G	missense_variant	MODERATE	GNB1	Transcript	NM_002074.4	protein_coding	6/12	NaN	632	239	80	I/T	aTc/aCc	NaN	-1.0	OK	deleterious	probably_damaging	NaN	NaN	NaN	NaN	NaN	28.100	6.061752	-1.0
3	1	2160305	G	A	0.0000	0.00000	0.0000	MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002\|MedGen:CN517202	NaN	Shprintzen-Goldberg_syndrome\|not_provided	NaN	NC_000001.10:g.2160305G>A	NaN	single_nucleotide_variant	OMIM_Allelic_Variant:164780.0004\|UniProtKB_(protein):P12755#VAR_071176	SO:0001583\|missense_variant	33	NaN	0	A	missense_variant	MODERATE	SKI	Transcript	XM_005244775.1	protein_coding	1/7	NaN	132	100	34	G/S	Ggc/Agc	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	22.500	3.114491	NaN
4	1	2160305	G	T	0.0000	0.00000	0.0000	MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002	NaN	Shprintzen-Goldberg_syndrome	NaN	NC_000001.10:g.2160305G>T	NaN	single_nucleotide_variant	OMIM_Allelic_Variant:164780.0005\|UniProtKB_(protein):P12755#VAR_071174	SO:0001583\|missense_variant	33	NaN	0	T	missense_variant	MODERATE	SKI	Transcript	XM_005244775.1	protein_coding	1/7	NaN	132	100	34	G/C	Ggc/Tgc	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	24.700	4.766224	-3.0
5	1	2160554	G	C	0.0000	0.00000	0.0000	MedGen:C1321551,OMIM:182212,SNOMED_CT:83092002\|MedGen:CN517202	NaN	Shprintzen-Goldberg_syndrome\|not_provided	NaN	NC_000001.10:g.2160554G>C	NaN	single_nucleotide_variant	UniProtKB_(protein):P12755#VAR_071183	SO:0001583\|missense_variant	33	NaN	0	C	missense_variant	MODERATE	SKI	Transcript	XM_005244775.1	protein_coding	1/7	NaN	381	349	117	G/R	Ggc/Cgc	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	23.700	4.079099	-2.0
6	1	3328358	T	C	0.0000	0.00000	0.0000	MedGen:CN169374	NaN	not_specified	NaN	NC_000001.10:g.3328358T>C	NaN	single_nucleotide_variant	UniProtKB_(protein):Q9HAZ2#VAR_031433	SO:0001583\|missense_variant	1	NaN	0	C	missense_variant	MODERATE	PRDM16	Transcript	XM_005244772.1	protein_coding	9/17	NaN	1858	1600	534	S/P	Tcg/Ccg	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	0.101	0.172	-0.543433	-1.0
7	1	3328659	C	T	0.1523	0.13103	0.1060	MedGen:CN169374	NaN	not_specified	NaN	NC_000001.10:g.3328659C>T	NaN	single_nucleotide_variant	UniProtKB_(protein):Q9HAZ2#VAR_031434	SO:0001583\|missense_variant	1	NaN	0	T	missense_variant	MODERATE	PRDM16	Transcript	XM_005244772.1	protein_coding	9/17	NaN	2159	1901	634	P/L	cCt/cTt	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	0.101	23.000	3.424422	-3.0
8	1	3347452	G	A	0.0000	0.00357	0.0030	MedGen:C3809288,OMIM:615373\|MedGen:CN169374\|MedGen:CN178850	NaN	Left_ventricular_noncompaction_8\|not_specified\|Dilated_cardiomyopathy_1LL	NaN	NC_000001.10:g.3347452G>A	NaN	single_nucleotide_variant	OMIM_Allelic_Variant:605557.0004\|UniProtKB_(protein):Q9HAZ2#VAR_070216	SO:0001583\|missense_variant	1	NaN	1	A	missense_variant	MODERATE	PRDM16	Transcript	XM_005244772.1	protein_coding	15/17	NaN	3562	3304	1102	V/M	Gtg/Atg	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	0.101	11.360	1.126629	1.0
9	1	5925304	G	A	0.0045	0.00231	0.0058	MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008\|MedGen:CN169374	NaN	Nephronophthisis\|not_specified	NaN	NC_000001.10:g.5925304G>A	NaN	single_nucleotide_variant	UniProtKB_(protein):O75161#VAR_022546	SO:0001583\|missense_variant	1	NaN	0	A	missense_variant	MODERATE	NPHP4	Transcript	NM_015102.3	protein_coding	27/30	NaN	3942	3674	1225	T/M	aCg/aTg	NaN	-1.0	NaN	deleterious	benign	NaN	NaN	NaN	NaN	0.021	22.100	2.969650	-1.0

Last rows

	CHROM	POS	REF	ALT	AF_ESP	AF_EXAC	AF_TGP	CLNDISDB	CLNDISDBINCL	CLNDN	CLNDNINCL	CLNHGVS	CLNSIGINCL	CLNVC	CLNVI	MC	ORIGIN	SSR	CLASS	Allele	Consequence	IMPACT	SYMBOL	Feature_type	Feature	BIOTYPE	EXON	INTRON	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	DISTANCE	STRAND	BAM_EDIT	SIFT	PolyPhen	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	LoFtool	CADD_PHRED	CADD_RAW	BLOSUM62
65178	X	154005088	C	CAAG	0.0000	0.00000	0.0000	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008\|MedGen:CN169374	NaN	Dyskeratosis_congenita\|not_specified	NaN	NC_000023.10:g.154005109_154005111dupGAA	NaN	Duplication	NaN	NaN	1	NaN	0	AAG	inframe_insertion	MODERATE	DKC1	Transcript	NM_001363.3	protein_coding	15/15	NaN	1701-1702	1491-1492	497-498	-/K	-/AAG	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	14.500	1.716666	NaN
65179	X	154005088	CAAG	C	0.0000	0.00000	0.0000	MedGen:C0265965,Orphanet:ORPHA1775,SNOMED_CT:74911008\|MedGen:CN169374	NaN	Dyskeratosis_congenita\|not_specified	NaN	NC_000023.10:g.154005109_154005111delGAA	NaN	Deletion	NaN	SO:0001624\|3_prime_UTR_variant	1	NaN	1	-	inframe_deletion	MODERATE	DKC1	Transcript	NM_001363.3	protein_coding	15/15	NaN	1702-1704	1492-1494	498	K/-	AAG/-	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	16.300	2.014044	NaN
65180	X	154005148	G	A	0.0708	0.17233	0.1383	MedGen:CN169374	NaN	not_specified	NaN	NC_000023.10:g.154005148G>A	NaN	single_nucleotide_variant	NaN	SO:0001624\|3_prime_UTR_variant	1	NaN	0	A	3_prime_UTR_variant	MODIFIER	DKC1	Transcript	NM_001363.3	protein_coding	15/15	NaN	1761	NaN	NaN	NaN	NaN	NaN	1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	6.255	0.359695	NaN
65181	X	154065843	G	A	0.0159	0.00689	0.0127	MedGen:CN169374\|MedGen:CN239152	NaN	not_specified\|Hemophilia_A,_FVIII_Deficiency	NaN	NC_000023.10:g.154065843G>A	NaN	single_nucleotide_variant	Illumina_Clinical_Services_Laboratory,Illumina:746215	SO:0001624\|3_prime_UTR_variant	1	NaN	0	A	3_prime_UTR_variant	MODIFIER	F8	Transcript	NM_000132.3	protein_coding	26/26	NaN	7256	NaN	NaN	NaN	NaN	NaN	-1.0	OK	NaN	NaN	NaN	NaN	NaN	NaN	0.00158	3.007	0.042639	NaN
65182	X	154157565	C	T	0.0153	0.00473	0.0140	MedGen:CN169374\|MedGen:CN239152	NaN	not_specified\|Hemophilia_A,_FVIII_Deficiency	NaN	NC_000023.10:g.154157565C>T	NaN	single_nucleotide_variant	Illumina_Clinical_Services_Laboratory,Illumina:741100	SO:0001819\|synonymous_variant	1	NaN	0	T	synonymous_variant	LOW	F8	Transcript	NM_000132.3	protein_coding	14/26	NaN	4671	4500	1500	P	ccG/ccA	NaN	-1.0	OK	NaN	NaN	NaN	NaN	NaN	NaN	0.00158	11.440	1.142527	NaN
65183	X	154158201	T	G	0.0801	0.13923	0.1605	MedGen:C0019069,OMIM:306700,SNOMED_CT:28293008\|MedGen:CN169374\|MedGen:CN239152	NaN	Hereditary_factor_VIII_deficiency_disease\|not_specified\|Hemophilia_A,_FVIII_Deficiency	NaN	NC_000023.10:g.154158201T>G	NaN	single_nucleotide_variant	ARUP_Laboratories,_Molecular_Genetics_and_Genomics:107962\|Illumina_Clinical_Services_Laboratory,Illumina:564263	SO:0001819\|synonymous_variant	1	NaN	0	G	synonymous_variant	LOW	F8	Transcript	NM_000132.3	protein_coding	14/26	NaN	4035	3864	1288	S	tcA/tcC	NaN	-1.0	OK	NaN	NaN	NaN	NaN	NaN	NaN	0.00158	0.105	-0.630908	NaN
65184	X	154159118	C	T	0.0020	0.00060	0.0013	MedGen:CN169374\|MedGen:CN239152	NaN	not_specified\|Hemophilia_A,_FVIII_Deficiency	NaN	NC_000023.10:g.154159118C>T	NaN	single_nucleotide_variant	ARUP_Laboratories,_Molecular_Genetics_and_Genomics:149220\|Illumina_Clinical_Services_Laboratory,Illumina:582677	SO:0001583\|missense_variant	1	NaN	1	T	missense_variant	MODERATE	F8	Transcript	NM_000132.3	protein_coding	14/26	NaN	3118	2947	983	V/I	Gta/Ata	NaN	-1.0	OK	tolerated	benign	NaN	NaN	NaN	NaN	0.00158	0.002	-1.731470	3.0
65185	X	154194886	C	T	0.0125	0.00370	0.0111	MedGen:CN169374\|MedGen:CN239152	NaN	not_specified\|Hemophilia_A,_FVIII_Deficiency	NaN	NC_000023.10:g.154194886C>T	NaN	single_nucleotide_variant	ARUP_Laboratories,_Molecular_Genetics_and_Genomics:153352\|Illumina_Clinical_Services_Laboratory,Illumina:746218	SO:0001819\|synonymous_variant	1	NaN	0	T	synonymous_variant	LOW	F8	Transcript	NM_000132.3	protein_coding	8/26	NaN	1257	1086	362	A	gcG/gcA	NaN	-1.0	OK	NaN	NaN	NaN	NaN	NaN	NaN	0.00158	12.850	1.412434	NaN
65186	X	154490187	T	C	0.0003	0.00034	0.0000	MedGen:C3501611,Orphanet:ORPHA777\|MedGen:CN169374	NaN	Non-syndromic_X-linked_intellectual_disability\|not_specified	NaN	NC_000023.10:g.154490187T>C	NaN	single_nucleotide_variant	Illumina_Clinical_Services_Laboratory,Illumina:628413	SO:0001819\|synonymous_variant	1	NaN	0	C	synonymous_variant	LOW	RAB39B	Transcript	NM_171998.2	protein_coding	2/2	NaN	822	543	181	T	acA/acG	NaN	-1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	NaN	0.130	-0.592415	NaN
65187	X	154508542	G	C	0.0019	0.00267	0.0008	MedGen:CN169374\|MedGen:CN517202	NaN	not_specified\|not_provided	NaN	NC_000023.10:g.154508542G>C	NaN	single_nucleotide_variant	NaN	SO:0001583\|missense_variant	1	NaN	0	C	missense_variant	MODERATE	CLIC2	Transcript	XM_005274646.1	protein_coding	6/7	NaN	791	532	178	P/A	Cca/Gca	NaN	-1.0	NaN	NaN	NaN	NaN	NaN	NaN	NaN	0.14000	0.046	-0.786513	-1.0

Overview

Variables

Interactions

Correlations

Pearson's r

Spearman's ρ

Kendall's τ

Missing values

Sample

First rows

Last rows